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DNA mismatch repair (MMR) is essential for maintaining genome integrity, yet its regulation by non-protein biomolecules remains poorly understood. Here, we uncover nuclear phosphatidylinositol 3-phosphate (PI3P) as a previously unrecognized lipid mediator of MMR. PI3P, canonically produced by the Be...
ORGANISM(S): Homo sapiens (Human) 
2026-09-07 | PXD066473 | Pride
Autophagy upregulation enhances the clearance of various neurotoxic proteins and ameliorates their toxicities in disease models. Thus, autophagy activators may have therapeutic utility. Here, we have identified the essential protein VCP/p97 as a target of the autophagy-inducing molecule SMER28, prov...
ORGANISM(S): Escherichia coli 
2022-07-15 | PXD027750 | Pride
Enhancing the removal of aggregate-prone toxic proteins is a rational therapeutic strategy for a number of neurodegenerative diseases, especially Huntington’s disease and various spinocerebellar ataxias. Ideally, such approaches should preferentially clear the mutant/misfolded species, while having ...
ORGANISM(S): Homo sapiens (Human) 
2022-07-15 | PXD034712 | Pride
Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disorder characterized by ptosis, dysphagia and proximal limb weakness. Autosomal-dominant OPMD is caused by a short (GCG)8–13 expansions within the first exon of the poly(A)-binding protein nuclear 1 gene (PABPN1), leading to an expanded p...
ORGANISM(S): Mus musculus 

The overarching goals of the ADSP are to: (1) identify new genomic variants contributing to increased risk of developing AD, (2) identify new genomic variants contributing to protection against developing AD, and (3) provide insight as to why individuals with known risk factor variants escape fro...

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